Disease Focus of the Month – Haemophilia

Haemophilia : It is a group of hereditary genetic disorders that impair the body’s ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. This disease is manifested in three forms, Haemophilia A, B and C. Haemophilia A is a recessive X-linked genetic disorder involving a lack of functional clotting Factor VIII and represents 80% of haemophilia cases. Haemophilia B is a recessive X-linked genetic disorder involving a lack of functional clotting Factor IX. It comprises approximately 20% of haemophilia cases. Haemophilia C is an autosomal genetic disorder (i.e. not X-linked) involving a lack of functional clotting Factor XI. Haemophilia C is not completely recessive: heterozygous individuals also show increased bleeding. Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it.

Prevalence Rate: Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births. Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.

Cause(s): This is a genetic disorder caused by the mutations in the X-chromosomes. Since the females possess two X-chromosomes, they have a lower chance of being affected with haemophilia.

Treatment: Though there is no cure for haemophilia, it can be controlled with regular infusions of the deficient clotting factor, i.e. factor VIII in haemophilia A or factor IX in haemophilia B. Factor replacement can be either isolated from human blood serum, recombinant, or a combination of the two. Some haemophiliacs develop antibodies (inhibitors) against the replacement factors given to them, so the amount of the factor has to be increased or non-human replacement products must be given, such as porcine factor VIII

Market size: As per GlobalData’s analysis, global hemophilia therapeutics market was valued at $6.5 billion in 2009. It is expected to increase at a Compound Annual Growth Rate (CAGR) of 5.8% from $6.5 billion in 2009 to $10.4 billion by 2017. This slow growth of 5.8% is primarily attributed to a low diagnosis rate and the high cost of therapy.

References:

World Federation of Haemophilia: Report on the Annual Global Survey 2008
http://emedicine.medscape.com/article/779322-overview
http://www.prnewswire.com/news-releases/reportlinker-adds-hemophilia—pipeline-assessment-and-market-forecasts-to-2017-98747309.html